Variants
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rs1555440785

  • Uncertain significance

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Description

This sequence change replaces arginine with glutamine at codon 1749 of the TSC2 protein (p.Arg1749Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

G


Alternative Allele

A

Chromosome

16


Location

2088312


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)


Allele

A


Clinical Significance

Uncertain significance

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